Structure-based mutation analysis

General

According to the UniProt entry about HFE_HUMAN are three 3D-structures of the HFE_HUMAN available, which are listed below. We have chosen the '1A6Z' because it has the best resolution, a very good R-Value (it measures the quality of the model obtained from the crystallographic data), a pH near the physiological optimum and is as good as complete. '1DE4' has a slightly better R-Value and pH, but this PDB also includes the transferrin receptor, which we do not need and do not want in our structure. '1C42' is only a hypothetical model, so we exclude it from further research.

stereochemistrical properties of 1a6z

All stereochemistrical properties of the structure are shown in the figure to the right<ref>Lebrón JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ.: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.</ref>.

PDB	Method	Resolution (Å)	Chain	R-Value	R-Free	pH
1A6Z	X-ray	2.60	A/C	0.233	0.277	6.5
1C42	model	-	A	-	-	-
1DE4	X-ray	2.80	A/D/G	0.231	0.265	8.0

Mapping

Because we have no annotation about the active site so we just visualized the mutations at the '1A6Z' structure.

References

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